Canonical Allele Identifier: CA398222114

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1423983
• ClinVar RCV Id: RCV001954946
• dbSNP Id: rs1187954440
• gnomAD v2: 17-12896193-G-A
• gnomAD v3: 17-12992876-G-A
• gnomAD v4: 17-12992876-G-A
• MyVariant Identifiers: chr17:g.12896193G>A (hg19) ; chr17:g.12992876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992876G>A , CM000679.2:g.12992876G>A	GRCh38
NC_000017.10:g.12896193G>A , CM000679.1:g.12896193G>A	GRCh37
NC_000017.9:g.12836918G>A	NCBI36
NG_015808.1:g.30189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2423C>T MANE Select	ENSP00000337445.4:p.Pro808Leu
ENST00000338034.8:c.2423C>T	ENSP00000337445.4:p.Pro808Leu
ENST00000395962.6:c.2366C>T	ENSP00000379291.1:p.Pro789Leu
ENST00000426905.7:c.2303C>T	ENSP00000405223.3:p.Pro768Leu
ENST00000465825.5:n.2310C>T
ENST00000480891.5:n.2252C>T
ENST00000484122.5:n.3253C>T
ENST00000487229.6:n.1969C>T
ENST00000584650.5:c.1822C>T
NM_001165962.1:c.2303C>T	NP_001159434.1:p.Pro768Leu
NM_018127.6:c.2423C>T	NP_060597.4:p.Pro808Leu
NM_173717.1:c.2420C>T	NP_776065.1:p.Pro807Leu
XM_024450850.1:c.2582C>T	XP_024306618.1:p.Pro861Leu
XM_024450851.1:c.2504C>T	XP_024306619.1:p.Pro835Leu
XM_024450852.1:c.2501C>T	XP_024306620.1:p.Pro834Leu
XM_024450853.1:c.2498C>T	XP_024306621.1:p.Pro833Leu
XM_024450854.1:c.2462C>T	XP_024306622.1:p.Pro821Leu
XM_024450855.1:c.2381C>T	XP_024306623.1:p.Pro794Leu
XM_024450856.1:c.2300C>T	XP_024306624.1:p.Pro767Leu
XM_024450857.1:c.2300C>T	XP_024306625.1:p.Pro767Leu
XM_024450858.1:c.2219C>T	XP_024306626.1:p.Pro740Leu
XM_024450859.1:c.2216C>T	XP_024306627.1:p.Pro739Leu
XM_024450860.1:c.2141C>T	XP_024306628.1:p.Pro714Leu
XM_024450861.1:c.2141C>T	XP_024306629.1:p.Pro714Leu
XM_024450862.1:c.2138C>T	XP_024306630.1:p.Pro713Leu
NM_018127.7:c.2423C>T MANE Select	NP_060597.4:p.Pro808Leu
NM_001165962.2:c.2303C>T	NP_001159434.1:p.Pro768Leu
NM_173717.2:c.2420C>T	NP_776065.1:p.Pro807Leu